Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1
0.580 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
0.520 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7592
Gene Symbol: ZNF41
ZNF41
0.520 Biomarker disease GENOMICS_ENGLAND XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 23871722 2013
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
0.520 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
0.510 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 641339
Gene Symbol: ZNF674
ZNF674
0.510 Biomarker disease GENOMICS_ENGLAND XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 23871722 2013
Entrez Id: 6855
Gene Symbol: SYP
SYP
0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.340 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 9203
Gene Symbol: ZMYM3
ZMYM3
0.330 Biomarker disease GENOMICS_ENGLAND Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. 8817323 1996
Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3
0.310 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81
0.310 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6
0.310 Biomarker disease GENOMICS_ENGLAND Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. 11017088 2000
Entrez Id: 7504
Gene Symbol: XK
XK
0.300 Biomarker disease GENOMICS_ENGLAND A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1
0.580 Biomarker disease LHGDN Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 19012350 2008
Entrez Id: 641339
Gene Symbol: ZNF674
ZNF674
0.510 Biomarker disease LHGDN We characterized the complete ZNF674 gene structure and subsequently tested an additional 306 patients with XLMR for mutations by direct sequencing. 16385466 2006
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.400 GeneticVariation disease LHGDN Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. 15024694 2004
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.400 GeneticVariation disease LHGDN These observations contribute to the phenotypic knowledge of patients with PQBP1 mutations and make this XLMR syndrome well recognizable to clinicians. 15355434 2004
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.400 GeneticVariation disease LHGDN Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649 2003
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.400 GeneticVariation disease LHGDN Oligophrenin 1 mutations were found in 12% (2/17) of individuals with mental retardatin and known cerebellar anomalies and in 1% (2/196) of the X-linked mental retardation group. 16221952 2005
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
0.370 Biomarker disease LHGDN We have studied the prevalence of SLC6A8 mutations in a panel of 290 patients with nonsyndromic XLMR archived by the European XLMR Consortium. 15154114 2004
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
0.370 GeneticVariation disease LHGDN X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. 11898126 2002
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.340 GeneticVariation disease LHGDN The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus. 15574732 2004
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2
0.320 GeneticVariation disease LHGDN AGTR2 mutations in X-linked mental retardation. 12089445 2002
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2
0.320 GeneticVariation disease LHGDN Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation. 16283672 2005
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
0.310 GeneticVariation disease LHGDN Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089 2002